Format

Send to:

Choose Destination

APIP APAF1 interacting protein [ Homo sapiens (human) ]

Gene ID: 51074, updated on 7-Dec-2018

Summary

Official Symbol
APIPprovided by HGNC
Official Full Name
APAF1 interacting proteinprovided by HGNC
Primary source
HGNC:HGNC:17581
See related
Ensembl:ENSG00000149089 MIM:612491
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
APIP2; CGI29; hAPIP; CGI-29; MMRP19
Summary
APIP is an APAF1 (MIM 602233)-interacting protein that acts as a negative regulator of ischemic/hypoxic injury (Cho et al., 2004 [PubMed 15262985]).[supplied by OMIM, Dec 2008]
Expression
Ubiquitous expression in fat (RPKM 15.7), adrenal (RPKM 13.7) and 25 other tissues See more
Orthologs

Genomic context

See APIP in Genome Data Viewer
Location:
11p13
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (34882295..34916411, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (34903842..34937939, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723568 Neighboring gene uncharacterized LOC105376625 Neighboring gene uncharacterized LOC105376624 Neighboring gene pyruvate dehydrogenase complex component X Neighboring gene microRNA 1343 Neighboring gene uncharacterized LOC105376626

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.
NHGRI GWA Catalog
Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • dJ179L10.2

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
methylthioribulose 1-phosphate dehydratase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
methylthioribulose 1-phosphate dehydratase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
L-methionine salvage from S-adenosylmethionine IEA
Inferred from Electronic Annotation
more info
 
L-methionine salvage from methylthioadenosine IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
L-methionine salvage from methylthioadenosine IEA
Inferred from Electronic Annotation
more info
 
L-methionine salvage from methylthioadenosine IMP
Inferred from Mutant Phenotype
more info
PubMed 
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein homotetramerization IDA
Inferred from Direct Assay
more info
PubMed 
pyroptosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of ERK1 and ERK2 cascade ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
methylthioribulose-1-phosphate dehydratase
Names
MTRu-1-P dehydratase
probable methylthioribulose-1-phosphate dehydratase
NP_057041.2
XP_011518456.1
XP_016873364.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_015957.4NP_057041.2  methylthioribulose-1-phosphate dehydratase

    See identical proteins and their annotated locations for NP_057041.2

    Status: VALIDATED

    Source sequence(s)
    AC107928, AF088034, BC009077, BP200131
    Consensus CDS
    CCDS7895.1
    UniProtKB/Swiss-Prot
    Q96GX9
    Related
    ENSP00000379133.3, ENST00000395787.3
    Conserved Domains (1) summary
    TIGR03328
    Location:28227
    salvage_mtnB; methylthioribulose-1-phosphate dehydratase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    34882295..34916411 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011520154.3XP_011518456.1  methylthioribulose-1-phosphate dehydratase isoform X1

    Conserved Domains (1) summary
    TIGR03328
    Location:45244
    salvage_mtnB; methylthioribulose-1-phosphate dehydratase
  2. XM_017017875.2XP_016873364.1  methylthioribulose-1-phosphate dehydratase isoform X2

    Related
    ENSP00000474191.1, ENST00000532428.6
    Conserved Domains (1) summary
    cl00214
    Location:1155
    Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
Support Center